UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
555529
dbSNP Id:
rs1439464815
gnomAD v3:
11-17393697-C-T
gnomAD v4:
11-17393697-C-T
COSMIC:
COSM6456576
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17393697C>T , CM000673.2:g.17393697C>T | GRCh38 |
| NC_000011.9:g.17415244C>T , CM000673.1:g.17415244C>T | GRCh37 |
| NC_000011.8:g.17371820C>T | NCBI36 |
| NG_008867.1:g.88206G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000524561.2:n.4209G>A | ||
| ENST00000526037.6:n.543G>A | ||
| ENST00000528374.2:c.1199G>A | ||
| ENST00000529967.6:n.2947G>A | ||
| ENST00000532220.2:n.3841G>A | ||
| ENST00000642611.2:n.5941G>A | ||
| ENST00000644057.2:n.1184G>A | ||
| ENST00000645004.2:n.2107G>A | ||
| ENST00000682051.1:n.4770G>A | ||
| ENST00000682110.1:n.4823G>A | ||
| ENST00000682140.1:c.*394G>A | ENSP00000507829.1:n.*394G>A | |
| ENST00000682185.1:n.5913G>A | ||
| ENST00000682204.1:c.*2746G>A | ENSP00000507094.1:n.*2746G>A | |
| ENST00000682215.1:n.5190G>A | ||
| ENST00000682288.1:c.*3039G>A | ENSP00000507506.1:n.*3039G>A | |
| ENST00000682442.1:n.5043G>A | ||
| ENST00000682528.1:n.4900G>A | ||
| ENST00000682673.1:n.4767G>A | ||
| ENST00000682805.1:n.5228G>A | ||
| ENST00000682965.1:c.*1030G>A | ENSP00000508229.1:n.*1030G>A | |
| ENST00000683093.1:n.5803G>A | ||
| ENST00000683136.1:c.4491G>A | ENSP00000507768.1:p.Ala1497= | |
| ENST00000683153.1:n.4865G>A | ||
| ENST00000683365.1:n.4925G>A | ||
| ENST00000683377.1:n.4719G>A | ||
| ENST00000683456.1:c.*1745G>A | ENSP00000508318.1:n.*1745G>A | |
| ENST00000683522.1:n.4905G>A | ||
| ENST00000683562.1:c.*2673G>A | ENSP00000508265.1:n.*2673G>A | |
| ENST00000683693.1:n.6284G>A | ||
| ENST00000683725.1:c.*73G>A | ENSP00000507496.1:n.*73G>A | |
| ENST00000684010.1:n.4818G>A | ||
| ENST00000684014.1:n.795G>A | ||
| ENST00000684157.1:n.5808G>A | ||
| ENST00000684253.1:n.4726G>A | ||
| ENST00000684288.1:c.*2780G>A | ENSP00000507143.1:n.*2780G>A | |
| ENST00000684313.1:n.4255G>A | ||
| ENST00000684332.1:n.4896G>A | ||
| ENST00000684371.1:n.4929G>A | ||
| ENST00000684404.1:n.5851G>A | ||
| ENST00000684442.1:n.5047G>A | ||
| ENST00000684555.1:c.*2820G>A | ENSP00000507705.1:n.*2820G>A | |
| ENST00000684571.1:c.4449G>A | ENSP00000506935.1:p.Ala1483= | |
| ENST00000684593.1:c.*4313G>A | ENSP00000507005.1:n.*4313G>A | |
| ENST00000684711.1:c.*3004G>A | ENSP00000506841.1:n.*3004G>A | |
| ENST00000302539.9:c.4611G>A | ENSP00000303960.4:p.Ala1537= | |
| ENST00000389817.8:c.4608G>A MANE Select | ENSP00000374467.4:p.Ala1536= | |
| ENST00000642271.1:c.4605G>A | ENSP00000493749.1:p.Ala1535= | |
| ENST00000642579.1:c.2662G>A | ||
| ENST00000642611.1:n.5826G>A | ||
| ENST00000642902.1:c.4390G>A | ||
| ENST00000643260.1:c.4608G>A | ENSP00000494450.1:p.Ala1536= | |
| ENST00000643562.1:c.*2730G>A | ENSP00000496124.1:n.*2730G>A | |
| ENST00000643925.1:c.3186-569G>A | ||
| ENST00000644057.1:n.767G>A | ||
| ENST00000644484.1:c.*3994G>A | ENSP00000493558.1:n.*3994G>A | |
| ENST00000644675.1:c.*2780G>A | ENSP00000494567.1:n.*2780G>A | |
| ENST00000644757.1:c.*3203-717G>A | ENSP00000495085.1:n.*3203-717G>A | |
| ENST00000644772.1:c.4674G>A | ENSP00000494321.1:p.Ala1558= | |
| ENST00000645004.1:n.2301G>A | ||
| ENST00000645076.1:c.3703G>A | ||
| ENST00000645417.1:c.1796G>A | ||
| ENST00000645744.1:c.*4293G>A | ENSP00000494564.1:n.*4293G>A | |
| ENST00000645760.1:c.5029G>A | ||
| ENST00000645884.1:c.*1891G>A | ENSP00000495516.1:n.*1891G>A | |
| ENST00000646003.1:c.*2630G>A | ENSP00000495259.1:n.*2630G>A | |
| ENST00000646207.1:c.*3445G>A | ENSP00000495025.1:n.*3445G>A | |
| ENST00000646276.1:c.*4012G>A | ENSP00000496070.1:n.*4012G>A | |
| ENST00000646592.1:c.3914G>A | ||
| ENST00000646902.1:c.4575G>A | ENSP00000494101.1:p.Ala1525= | |
| ENST00000646993.1:c.*3046G>A | ENSP00000493720.1:n.*3046G>A | |
| ENST00000647015.1:c.4359G>A | ENSP00000495389.1:p.Ala1453= | |
| ENST00000647086.1:c.*4194G>A | ENSP00000493677.1:n.*4194G>A | |
| ENST00000647158.1:c.*2895G>A | ENSP00000495744.1:n.*2895G>A | |
| ENST00000302539.8:c.4611G>A | ENSP00000303960.4:p.Ala1537= | |
| ENST00000389817.7:c.4608G>A | ENSP00000374467.3:p.Ala1536= | |
| ENST00000525022.1:n.503G>A | ||
| ENST00000526037.5:n.368G>A | ||
| ENST00000526168.5:c.396G>A | ||
| ENST00000531642.5:c.639G>A | ||
| NM_000352.4:c.4608G>A | NP_000343.2:p.Ala1536= | |
| NM_001287174.1:c.4611G>A | NP_001274103.1:p.Ala1537= | |
| XM_011520331.1:c.4608G>A | XP_011518633.1:p.Ala1536= | |
| XM_011520333.1:c.3108G>A | XP_011518635.1:p.Ala1036= | |
| XR_930890.1:n.4570G>A | ||
| NM_001351295.1:c.4674G>A | NP_001338224.1:p.Ala1558= | |
| NM_001351296.1:c.4608G>A | NP_001338225.1:p.Ala1536= | |
| NM_001351297.1:c.4605G>A | NP_001338226.1:p.Ala1535= | |
| NR_147094.1:n.4903G>A | ||
| XM_017018197.2:c.4677G>A | XP_016873686.1:p.Ala1559= | |
| XM_017018199.1:c.4674G>A | XP_016873688.1:p.Ala1558= | |
| XM_017018202.1:c.3174G>A | XP_016873691.1:p.Ala1058= | |
| XM_017018204.1:c.2565G>A | XP_016873693.1:p.Ala855= | |
| XM_024448668.1:c.2976G>A | XP_024304436.1:p.Ala992= | |
| XR_001747945.2:n.4645G>A | ||
| XR_001747946.2:n.4576G>A | ||
| XR_002957189.1:n.6359G>A | ||
| NM_000352.6:c.4608G>A MANE Select | NP_000343.2:p.Ala1536= | |
| NM_001287174.2:c.4611G>A | NP_001274103.1:p.Ala1537= | |
| NM_001351295.2:c.4674G>A | NP_001338224.1:p.Ala1558= | |
| NM_001351296.2:c.4608G>A | NP_001338225.1:p.Ala1536= | |
| NM_001351297.2:c.4605G>A | NP_001338226.1:p.Ala1535= | |
| NR_147094.2:n.4903G>A | ||
| NM_001287174.3:c.4611G>A | NP_001274103.1:p.Ala1537= |